T16del (p.Thr16del) variant of FHL1 (Q13642)
T16del (p.Thr16del) in FHL1 (Q13642) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T16del (p.Thr16del) variant details
- rs1356932748
- gnomAD X-136206428-GCAC-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.54
- CADD 17.50
- Population evidence available
- Structural context available
- FHL1 Zinc finger, LIM-type domain domainome 1.0: score -0.177
- Literature evidence available